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Aileen M Barnes

Showing results (11-20 of 34) with videos related to

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Plos One|May 23, 2012
A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfectaMasaki Takagi, Tomohiro Ishii, Aileen M Barnes, et al.
JBMR Plus|August 14, 2025
Moderately severe osteogenesis imperfecta-like osteochondrodysplasia associated with heterozygous variants in both <i>COL1A2</i> and <i>TRPV4</i>Elena F Evans, Woo Young Chung, Aileen M Barnes, et al.
The Journal of Biological Chemistry|December 13, 2007
Structural heterogeneity of type I collagen triple helix and its role in osteogenesis imperfectaElena Makareeva, Edward L Mertz, Natalia V Kuznetsova, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|February 13, 2014
A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factorCharles R Farber, Adi Reich, Aileen M Barnes, et al.
Bone|April 17, 2016
Bone mineral properties in growing Col1a2(+/G610C) mice, an animal model of osteogenesis imperfectaMarco Masci, Min Wang, Laurianne Imbert, et al.
The New England Journal of Medicine|January 22, 2010
Lack of cyclophilin B in osteogenesis imperfecta with normal collagen foldingAileen M Barnes, Erin M Carter, Wayne A Cabral, et al.
Bone Reports|July 25, 2022
<i>SMAD3</i> mutation in LDS3 causes bone fragility by impairing the TGF-β pathway and enhancing osteoclastogenesisAhmed El-Gazzar, Heeseog Kang, Nadja Fratzl-Zelman, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|May 6, 2019
COL1A1 C-propeptide mutations cause ER mislocalization of procollagen and impair C-terminal procollagen processingAileen M Barnes, Aarthi Ashok, Elena N Makareeva, et al.
Bone|September 1, 2019
Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutationSteven Mumm, Gary S Gottesman, Deborah Wenkert, et al.
Human Mutation|May 29, 2013
Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutationsAileen M Barnes, Geraldine Duncan, Maryann Weis, et al.
Pageof 4

Showing results (11-20 of 34) with videos related to

Sort By:
Pageof 4
Plos One|May 23, 2012
A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfectaMasaki Takagi, Tomohiro Ishii, Aileen M Barnes, et al.
JBMR Plus|August 14, 2025
Moderately severe osteogenesis imperfecta-like osteochondrodysplasia associated with heterozygous variants in both <i>COL1A2</i> and <i>TRPV4</i>Elena F Evans, Woo Young Chung, Aileen M Barnes, et al.
The Journal of Biological Chemistry|December 13, 2007
Structural heterogeneity of type I collagen triple helix and its role in osteogenesis imperfectaElena Makareeva, Edward L Mertz, Natalia V Kuznetsova, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|February 13, 2014
A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factorCharles R Farber, Adi Reich, Aileen M Barnes, et al.
Bone|April 17, 2016
Bone mineral properties in growing Col1a2(+/G610C) mice, an animal model of osteogenesis imperfectaMarco Masci, Min Wang, Laurianne Imbert, et al.
The New England Journal of Medicine|January 22, 2010
Lack of cyclophilin B in osteogenesis imperfecta with normal collagen foldingAileen M Barnes, Erin M Carter, Wayne A Cabral, et al.
Bone Reports|July 25, 2022
<i>SMAD3</i> mutation in LDS3 causes bone fragility by impairing the TGF-β pathway and enhancing osteoclastogenesisAhmed El-Gazzar, Heeseog Kang, Nadja Fratzl-Zelman, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|May 6, 2019
COL1A1 C-propeptide mutations cause ER mislocalization of procollagen and impair C-terminal procollagen processingAileen M Barnes, Aarthi Ashok, Elena N Makareeva, et al.
Bone|September 1, 2019
Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutationSteven Mumm, Gary S Gottesman, Deborah Wenkert, et al.
Human Mutation|May 29, 2013
Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutationsAileen M Barnes, Geraldine Duncan, Maryann Weis, et al.
Pageof 4